Apart from the calcification in the patient with cervical pain, all calcifications were asymptomatic and constituted an incidental finding (particularly those detected at the thoracic level in the patient studied for sunflower-seed inhalation). Calcification shapes were either linear or round. Our series confirms that intervertebral disc calcifications are a rare finding in childhood and should not be a source of concern: symptomatic calcifications tend to regress spontaneously within a short time with or without therapy and immobilisation, whereas asymptomatic calcifications may last for years but disappear before the age of 20 years. Only very few cases, such as those of medullary compression or severe dysphagia due to anterior herniation of cervical discs, may require surgical procedures.
Acrocephalosyndactyly (ACS) is an inherited syndrome of premature synostosis of the cranial sutures and abnormalities in the distal segments of the limbs. Several forms of ACS have been described. ACS type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and facial abnormalities. We describe an Italian family with ACS III in which two sibs are clearly affected; the mother and the maternal grandmother show some features of the syndrome.
Summary:reported to be potentially capable of correcting bone abnormalities in patients affected by juvenile osteopetrosis. 7-10The best results have been obtained in children transplanted Allogeneic BMT has been reported to be the only curative therapy for children with juvenile autosomal recessusing an HLA-identical relative, whereas those given BMT from an unrelated volunteer or particularly from an HLAive osteopetrosis. We report the case of a 14-month-old child in whom bone resorption was observed after cord partially matched family donor had a lower probability of benefiting from the procedure. 10 Moreover, as neuro-senblood transplantation (CBT). The patient was given CBT from an unrelated newborn matched for five of six sory impairment occurs early during the course of the disease, transplantation of hematopoietic progenitors should HLA antigens. At the time of transplantation, the child presented with neurological symptoms, with feeding be performed as soon as possible. The use of human umbilical cord blood (CB) hematopoproblems and visual impairment. A successful engraftment of donor hematopoiesis was demonstrated ietic progenitors from an HLA-identical sibling represents an alternative modality of transplantation, which, since first and the child experienced grade I acute GVHD. Progressive bone clearing was achieved and a bone marrow successfully applied in 1988, is being increasingly employed. 11-13 Advantages of CB transplants (CBT) from trephine demonstrated signs of osteoclast function. Despite full engraftment and bone resorption, neuroa compatible relative include ease and safety of hematopoietic stem cell collection, low risk of viral contamination, logic deterioration did not improve. This experience documents that CBT can promote the correction of juvand at least in view of the currently available evidence, reduced incidence of GVHD. The reduced risk of severe enile osteopetrosis. The shorter time needed both to identify an unrelated donor and to perform the transimmune reactions after CBT and the shorter time needed both to locate a suitable donor and to perform the transplant plant, as well as the lower incidence of GVHD make this procedure more appealing than BMT in children have recently promoted the use of CB progenitor cells from unrelated newborns. 14,15lacking an HLA-compatible relative. Keywords: cord blood transplantation; malignant osteoWe describe the case of a patient affected by juvenile AR osteopetrosis who underwent successful CBT from an petrosis; bone resorption HLA-partially matched unrelated donor.Juvenile autosomal recessive (AR) osteopetrosis is a rare Case report disorder of bone metabolism, characterized by deficient osteoclast function, leading to impaired bone resorption. 1,2The patient, a Caucasian female, was the product of an Patients with this disease have an increased bone density uncomplicated second pregnancy and there was no history resulting in the obliteration of the medullary cavity, which of parental consanguinity. Osteopetrosis was diagnosed at in turn r...
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